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What is the prevalence of 3M syndrome?

How many people does 3M syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of 3M syndrome

3M syndrome is a rare genetic disorder characterized by short stature, distinctive facial features, and skeletal abnormalities. It is estimated to affect approximately 1 in 1 million individuals worldwide, making it an extremely rare condition. The prevalence of 3M syndrome varies across different populations and ethnicities. Due to its rarity, accurate data on prevalence is limited. However, it is considered to be a very uncommon disorder. Diagnosis and management of 3M syndrome require a multidisciplinary approach involving genetic testing, growth hormone therapy, and orthopedic interventions.



3M syndrome is a rare genetic disorder characterized by short stature, distinctive facial features, and skeletal abnormalities. It is estimated to affect approximately 1 in 1 million individuals worldwide, making it an extremely rare condition.


The prevalence of 3M syndrome varies across different populations and ethnicities. It has been reported in various countries, including the United States, Europe, Asia, and the Middle East. However, due to its rarity, accurate prevalence rates are challenging to determine.


3M syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The condition is caused by mutations in the CUL7, OBSL1, or CCDC8 genes, which play a role in skeletal development.


Diagnosis of 3M syndrome is typically based on clinical features, such as short stature, facial characteristics, and radiographic findings. Genetic testing can confirm the diagnosis.


Although 3M syndrome is a rare disorder, early recognition and appropriate management are crucial for affected individuals. Genetic counseling and support groups can provide valuable resources for affected individuals and their families.


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World map of 3M syndrome

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